Short answer · Medically reviewed summary · Last updated: 2026-04-07
Floating-Harbor syndrome is currently classified under the ICD-10 code Q87.89 (Other specified congenital malformation syndromes, not elsewhere classified) and does not have a unique, specific code in the older ICD-9 system, where it would typically fall under 759.89 (Other specified congenital anomalies). Because Floating-Harbor syndrome is a rare genetic disorder, it is often documented using these broader "catch-all" codes in medical billing and clinical coding systems. What is the clinical significance of Floating-Harbor syndrome? Floating-Harbor syndrome, also known as Pelletier-Leisti syndrome, is a rare genetic condition characterized by distinctive craniofacial features, short stature, and significant expressive language delays.
ICD10 code of Floating-Harbor syndrome and ICD9 code
ICD-10 and ICD-9 codes for Floating-Harbor syndrome, with classification details for clinicians, coders and patients.
Floating-Harbor syndrome is currently classified under the ICD-10 code Q87.89 (Other specified congenital malformation syndromes, not elsewhere classified) and does not have a unique, specific code in the older ICD-9 system, where it would typically fall under 759.89 (Other specified congenital anomalies). Because Floating-Harbor syndrome is a rare genetic disorder, it is often documented using these broader "catch-all" codes in medical billing and clinical coding systems.
What is the clinical significance of Floating-Harbor syndrome?
Floating-Harbor syndrome, also known as Pelletier-Leisti syndrome, is a rare genetic condition characterized by distinctive craniofacial features, short stature, and significant expressive language delays. The condition was first described in the 1970s and is caused by heterozygous mutations in the SRCAP gene. For the 11 individuals with Floating-Harbor syndrome who have connected through the DiseaseMaps.org community, these clinical labels are more than just billing codes; they represent a journey toward understanding a complex developmental profile that requires a multidisciplinary approach to care.
How is Floating-Harbor syndrome diagnosed and coded?
Diagnosis of Floating-Harbor syndrome is primarily clinical, based on the presence of a triangular face, deep-set eyes, a prominent nose with a narrow bridge, and delayed bone age. Following a clinical suspicion, molecular genetic testing is used to confirm a mutation in the SRCAP gene. Because there is no dedicated ICD-10 code specifically for Floating-Harbor syndrome, clinicians often use the following strategies for accurate medical documentation:
- Utilizing Q87.89 to indicate the syndrome's status as a rare congenital malformation.
- Adding secondary codes to describe specific manifestations, such as developmental delay (F80.9) or short stature (E34.3).
- Documenting the specific genetic finding (e.g., SRCAP mutation) in the clinical notes to ensure long-term tracking.
What are the primary characteristics of Floating-Harbor syndrome?
Individuals living with Floating-Harbor syndrome often face a unique set of challenges that extend beyond the physical phenotype. While the prevalence remains unknown, it is considered extremely rare, with fewer than 100 cases reported in medical literature worldwide. Key features typically observed include:
- Growth Patterns: Significant short stature with delayed bone age, often becoming more apparent in early childhood.
- Communication: Profound expressive language impairment, which may be disproportionate to cognitive abilities.
- Craniofacial Features: A triangular-shaped face, a thin upper lip, and a wide mouth.
- Skeletal Anomalies: Broad thumbs or brachydactyly may also be present in some patients.
How does the rarity of Floating-Harbor syndrome impact care?
Due to the rarity of Floating-Harbor syndrome, many general practitioners may not be familiar with the diagnostic criteria or the specific coding requirements. This can lead to delays in diagnosis and challenges in accessing specialized therapies. Connecting with rare disease communities like DiseaseMaps.org allows families to share experiences regarding how they navigate these administrative hurdles, ensuring that the clinical focus remains on the developmental and medical needs of the patient rather than the limitations of the coding system.
Next steps
- Consult a Geneticist: If you suspect a diagnosis of Floating-Harbor syndrome, seek a referral to a clinical geneticist for SRCAP gene sequencing.
- Multidisciplinary Care: Coordinate care between speech therapists, endocrinologists (for growth monitoring), and pediatricians.
- Join the Community: Engage with the 11 community members on DiseaseMaps.org to share insights on symptom management and healthcare navigation.
- Advocate for Accurate Coding: When visiting specialists, provide them with the specific ICD-10 code (Q87.89) and a summary of the syndrome to ensure accurate record-keeping.
Medical disclaimer: This information is for educational purposes only and should not be considered a substitute for professional medical advice, diagnosis, or treatment from a qualified healthcare provider.
References
- Orphanet: Floating-Harbor syndrome (ORPHA:2054)
- NIH Genetic and Rare Diseases Information Center (GARD): Floating-Harbor syndrome
- OMIM (Online Mendelian Inheritance in Man): #136140 Floating-Harbor syndrome; FLHS
- PubMed: Clinical and genetic spectrum of Floating-Harbor syndrome (Review articles)
